Journal of the Japan Epilepsy Society

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An inverted duplication of chromosome 15 (inv dup[15]) is the most common supernumerary marker chromosome in humans. Inv dup(15) is usually associated with mental retardation, epilepsy, behavioral problems and structural malformations. Though epilepsies associated with inv dup(15) are often intractable, there have been very few reports regarding the seizure manifestations or types. We report a patient with partial seizure of frontal lobe origin, associated with mosaic inv dup(15).
The patient was a 30 years old male with severe mental retardation. His seizures first began at 7 years as generalized tonic seizure, and then he also had atypical absence. His seizures disappeared at the age of 12. He had been suffered from complex partial seizures with complex hypermotor automatism since the age of 15. He had been treated with various anti-epileptic drugs, however, control of seizures was poor and seizures occurred daily. Seizure manifestations and ictal EEG suggested his seizures to be frontal lobe origin. Cytogenetic analysis of fibroblasts showed a mosaic karyotype, 47, XY, +idic(15)(q13)[28]/47, XY, +idic(15)(q11)[1]/46, XY[1]

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